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As director of the Leukodystrophy Service at MGH I see patients with a variety of neurogenetic disorders and am actively studying abnormal accumulation of lipids in both my clinic and my laboratory.
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MassGeneral Hospital for Children
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Florian Eichler received his M.D. from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in Pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins he underwent residency training in Child Neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.
Now an Associate Professor of Neurology at Harvard Medical School he is extending his research into animal models of neurodegenerative disorders. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital he sees patients with a variety of white matter disorders. He currently holds several NIH awards funding studies to analyze metabolic changes seen in the brain by MR measures and to determine the neurotoxicity of newly discovered atypical sphingolipids.
My expertise lies in neurogenetics and translational neuroscience. The topic of my research is unraveling the disease mechanisms of monogenetic disorders affecting the nervous system. This allows my lab to explore the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. As director of the leukodystrophy service at MGH I see patients with a variety of neurogenetic disorders and am actively studying abnormal accumulation of lipids such as very long chain fatty acids and desoxysphingoid bases in both my clinic and my laboratory. My clinical research studies have defined disease progression in adrenoleukodystrophy, metachromatic leukodystrophy and Tay Sachs Disease. Recently we were able to show that levels of desoxysphingoid bases in mice and humans with an inherited form of neuropathy contribute to disease and can be lowered by supplementation with L-serine.
Neurology Research Investigator Profile
Eichler F, Tan WH, Shih VS et al. Proton MR Spectroscopy and Diffusion Weighted Imaging in Isolated Sulfite Oxidase Deficiency. Journal of Child Neurology 2006; 21:801-805.
Eichler FS, Ren JQ, Cossoy M, et al. Is microglial apoptosis an early pathogenic change in cerebral X-ALD? Annals of Neurology. 2008; 63(6):729-42.
Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler FS. 7 Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Archives of Neurology. 2008; 65(11):1488-94.
Eichler F, Grodd W, Grant E, et al. Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR Am J Neuroradiol. AJNR Am J Neuroradiol. 2009; 30(10):1893-7.
Eichler FS, Hornemann T, McCampbell A, et al. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipids levels and rescues the phenotype of HSAN1. J Neurosci. 2009; 29(46):14646-51.
In a recent clinical trial, a gene therapy to treat cerebral adrenoleukodystrophy (CALD) — a neurodegenerative disease that typically claims young boys' lives within 10 years of diagnosis — effectively stabilized the disease's progression in 88 percent of patients, researchers from the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Massachusetts General Hospital report today.
What is the fastest way to develop new treatments for patients with rare diseases? In a word, teamwork. That was the consensus that emerged from an hour-long panel discussion on rare disease research hosted by the Division of Clinical Research during Clinical Research Day Oct. 6.
MGH Hotline 09.11.09 In General awards and honors
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